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Here we describe a major risk locus on chr15q14 identified through a genome-wide association study in 59 pathologically confirmed aFTLD-U cases and 3,153 controls (lead single nucleotide polymorphism rs549846383,\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20095.85\u2009\u00d7\u200910\n                    <jats:sup>\u221221<\/jats:sup>\n                    , odds ratio 26.7). When combined with data from 28 additional aFTLD-U cases, 3,712 controls and 3,215 individuals with other neurodegenerative diseases and by leveraging in-house and public long-read genome sequencing data from 1,715 individuals, we identified a tandem repeat expansion on the associated haplotypes in an intron of\n                    <jats:italic>GOLGA8A<\/jats:italic>\n                    . We found variation in repeat length, motif length, and motif sequence, with long CT-dimer expansions strongly associated with aFTLD-U. Although the functional consequence of this repeat remains unknown, its presence in nearly 60% of aFTLD-U cases points to a fundamental role in disease pathogenesis.\n                  <\/jats:p>","DOI":"10.1038\/s41588-026-02537-7","type":"journal-article","created":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T10:01:57Z","timestamp":1773309717000},"page":"726-736","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions"],"prefix":"10.1038","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5248-8197","authenticated-orcid":false,"given":"Wouter","family":"De Coster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen","family":"Van den 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W.D.C. and R.R. are inventors on a patent filed concerning diagnostic applications of the\n                      GOLGA8A\n                      repeat expansion as described in this Article. R.R. received consulting fees from Arkuda Therapeutics. D.R.T. received consulting fees from Muna Therapeutics and collaborated with Novartis Pharma AG (Switzerland), and GE Healthcare (UK). S.E. received consulting fees from Biogen (paid to institution), Eisai (paid to institution), Icometrix (paid to institution), Janssen (paid to institution), Eli Lilly, Novartis (paid to institution) and Remynd (paid to institution). S.E. holds patent EP3452830B1 for an assay for the diagnosis of a neurological disease (licensed to ADX Neurosciences NV & Euroimmun Medizinische Labordiagnostika AG). S.E. is a member of SMB\/SAB for EU-H2020 project RECAGE and chair of the DSMB of PRImus-AD (paid to institution). A.L.B. has served as a paid consultant to Alector, Alexion, Arrowhead, Arvinas, Biogen, BMS, Eli Lilly, Janssen, Merck, Neurocrine, Novartis, Oligomerix, Ono, Oscotec, Otsuka, Switch and Voyager. A.L.B. is a scientific cofounder of Neurovanda, and has stock\/options in Alector, Arvinas and Neurovanda. S.J.H. serves on the scientific advisory board of Proximity Therapeutics, Psy Therapeutics, Sensorium Therapeutics, 4M Therapeutics, Ilios Therapeutics, Entheos Labs, Birdwood Therapeutics and Manhattan Neuroscience, none of whom was involved in the present study. S.J.H. has also received speaking or consulting fees from Amgen, AstraZeneca, Biogen, Merck, Regenacy Pharmaceuticals, Syros Pharmaceuticals, Juvenescence Life and Souvien Therapeutics, as well as sponsored research or gift funding from AstraZeneca, JW Pharmaceuticals, Lexicon Pharmaceuticals, Vesigen Therapeutics, Compass Pathways, Atai Life Sciences and Stealth Biotherapeutics. R.V.\u2019s institution has clinical trial agreements (R.V. as site PI) with Alector, AviadoBio, BMS, Denali, Eli Lilly, J&J, Merck and UCB. R.V.\u2019s institution has consultancy agreements (R.V. as DSMB or DMC member) with ACImmune and Novartis. Z.K.W. serves as Mayo Clinic site PI on the Amylyx AMX0035-009 project and acts as an external advisory board member for the Savanna Biotherapeutics, Inc., and as a consultant for the BlueRock Therapeutics LP. The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}